Canonical Allele Identifier: CA351204700

Gene: LRRFIP1

Linked Data

• MyVariant Identifiers: chr2:g.238672565G>T (hg19) ; chr2:g.237763922G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763922G>T , CM000664.2:g.237763922G>T	GRCh38
NC_000002.11:g.238672565G>T , CM000664.1:g.238672565G>T	GRCh37
NC_000002.10:g.238337304G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3717G>T
ENST00000698098.1:c.955+3717G>T	ENSP00000513562.1:n.955+3717G>T
ENST00000308482.14:c.1459+3717G>T MANE Select	ENSP00000310109.9:n.1459+3717G>T
ENST00000244815.9:c.2137G>T	ENSP00000244815.5:p.Asp713Tyr
ENST00000289175.10:c.2041G>T	ENSP00000289175.6:p.Asp681Tyr
ENST00000308482.13:c.1459+3717G>T	ENSP00000310109.9:n.1459+3717G>T
ENST00000392000.4:c.2209G>T	ENSP00000375857.4:p.Asp737Tyr
ENST00000483443.1:n.235+3717G>T
NM_001137550.1:c.1459+3717G>T	NP_001131022.1:n.1459+3717G>T
NM_001137551.1:c.721+3717G>T	NP_001131023.1:n.721+3717G>T
NM_001137552.1:c.2209G>T	NP_001131024.1:p.Asp737Tyr
NM_001137553.1:c.2041G>T	NP_001131025.1:p.Asp681Tyr
NM_004735.3:c.2137G>T	NP_004726.2:p.Asp713Tyr
XM_005246112.3:c.2842G>T	XP_005246169.1:p.Asp948Tyr
XM_005246115.3:c.2797G>T	XP_005246172.1:p.Asp933Tyr
XM_005246116.3:c.2779G>T	XP_005246173.1:p.Asp927Tyr
XM_005246118.3:c.2734G>T	XP_005246175.1:p.Asp912Tyr
XM_005246119.3:c.2731G>T	XP_005246176.1:p.Asp911Tyr
XM_005246120.3:c.2695G>T	XP_005246177.1:p.Asp899Tyr
XM_005246121.3:c.2680G>T	XP_005246178.1:p.Asp894Tyr
XM_005246122.3:c.2668G>T	XP_005246179.1:p.Asp890Tyr
XM_005246124.1:c.2650G>T	XP_005246181.1:p.Asp884Tyr
XM_005246125.3:c.2629G>T	XP_005246182.1:p.Asp877Tyr
XM_005246126.3:c.2590G>T	XP_005246183.1:p.Asp864Tyr
XM_005246128.1:c.2557G>T	XP_005246185.1:p.Asp853Tyr
XM_005246129.3:c.2518G>T	XP_005246186.1:p.Asp840Tyr
XM_005246130.3:c.2491G>T	XP_005246187.1:p.Asp831Tyr
XM_005246131.3:c.2404G>T	XP_005246188.1:p.Asp802Tyr
XM_005246132.3:c.2329G>T	XP_005246189.1:p.Asp777Tyr
XM_005246133.1:c.2299G>T	XP_005246190.1:p.Asp767Tyr
XM_005246134.1:c.2257G>T	XP_005246191.1:p.Asp753Tyr
XM_005246135.1:c.2227G>T	XP_005246192.1:p.Asp743Tyr
XM_005246136.1:c.2071G>T	XP_005246193.1:p.Asp691Tyr
XM_005246141.3:c.823+3717G>T	XP_005246198.1:n.823+3717G>T
XM_005246142.1:c.751+3717G>T	XP_005246199.1:n.751+3717G>T
XM_006712842.2:c.2740G>T	XP_006712905.1:p.Asp914Tyr
XM_006712843.2:c.2635G>T	XP_006712906.1:p.Asp879Tyr
XM_006712844.1:c.2569G>T	XP_006712907.1:p.Asp857Tyr
XM_006712845.2:c.2551G>T	XP_006712908.1:p.Asp851Tyr
XM_006712846.1:c.2455G>T	XP_006712909.1:p.Asp819Tyr
XM_006712847.1:c.2395G>T	XP_006712910.1:p.Asp799Tyr
XM_006712848.1:c.2323G>T	XP_006712911.1:p.Asp775Tyr
XM_011512152.1:c.2875G>T	XP_011510454.1:p.Asp959Tyr
XM_011512153.1:c.2857G>T	XP_011510455.1:p.Asp953Tyr
XM_011512154.1:c.2845G>T	XP_011510456.1:p.Asp949Tyr
XM_011512155.1:c.2836G>T	XP_011510457.1:p.Asp946Tyr
XM_011512156.1:c.2803G>T	XP_011510458.1:p.Asp935Tyr
XM_011512157.1:c.2689G>T	XP_011510459.1:p.Asp897Tyr
XM_011512158.1:c.2617G>T	XP_011510460.1:p.Asp873Tyr
XM_011512159.1:c.2425G>T	XP_011510461.1:p.Asp809Tyr
XM_011512160.1:c.1555+3717G>T	XP_011510462.1:n.1555+3717G>T
XM_011512161.1:c.1555+3717G>T	XP_011510463.1:n.1555+3717G>T
XM_011512162.1:c.1369+3717G>T	XP_011510464.1:n.1369+3717G>T
XM_011512163.1:c.1297+3717G>T	XP_011510465.1:n.1297+3717G>T
XM_011512164.1:c.751+3717G>T	XP_011510466.1:n.751+3717G>T
XM_011512165.1:c.721+3717G>T	XP_011510467.1:n.721+3717G>T
XM_011512166.1:c.1516+3717G>T	XP_011510468.1:n.1516+3717G>T
XR_923063.1:n.1605+3717G>T
XM_005246141.4:c.823+3717G>T	XP_005246198.1:n.823+3717G>T
XM_005246142.2:c.751+3717G>T	XP_005246199.1:n.751+3717G>T
XM_017005253.2:c.1522+3717G>T	XP_016860742.1:n.1522+3717G>T
XM_017005254.2:c.1522+3717G>T	XP_016860743.1:n.1522+3717G>T
XM_017005255.2:c.1450+3717G>T	XP_016860744.1:n.1450+3717G>T
XM_017005256.2:c.1336+3717G>T	XP_016860745.1:n.1336+3717G>T
XM_017005257.2:c.1387+3717G>T	XP_016860746.1:n.1387+3717G>T
XM_017005258.2:c.1336+3717G>T	XP_016860747.1:n.1336+3717G>T
XM_017005260.2:c.1162+3717G>T	XP_016860749.1:n.1162+3717G>T
XM_017005261.2:c.1099+3717G>T	XP_016860750.1:n.1099+3717G>T
XM_017005262.2:c.1099+3717G>T	XP_016860751.1:n.1099+3717G>T
XM_017005263.2:c.937+3717G>T	XP_016860752.1:n.937+3717G>T
XR_001739039.2:n.2911G>T
XR_001739040.1:n.3076G>T
XR_001739041.2:n.2872G>T
XR_001739042.2:n.2848G>T
XR_001739043.1:n.2824G>T
XR_001739044.2:n.2839G>T
XR_001739045.2:n.2809G>T
XR_001739046.1:n.3156G>T
XR_001739047.2:n.2725G>T
XR_001739048.1:n.2914G>T
XR_001739049.2:n.2659G>T
XR_001739050.2:n.2620G>T
XR_001739051.2:n.2587G>T
XR_001739052.2:n.2560G>T
XR_001739053.1:n.2549G>T
XR_001739054.1:n.2471G>T
XR_001739055.2:n.2488G>T
XR_001739056.2:n.2473G>T
XR_001739057.1:n.2489G>T
XR_001739058.1:n.2668G>T
XR_001739059.2:n.2401G>T
XR_001739060.1:n.2375G>T
XR_001739061.1:n.2417G>T
XR_001739062.1:n.2594G>T
XR_001739063.1:n.2301G>T
XR_001739064.1:n.2562G>T
XR_001739065.1:n.2506G>T
XR_001739066.1:n.2303G>T
XR_001739067.1:n.2210G>T
XR_001739068.1:n.2231G>T
XR_001739069.1:n.2408G>T
XR_001739070.1:n.2272G>T
XR_001739071.1:n.2130G>T
XR_001739072.1:n.2376G>T
XR_001739073.2:n.1591+3717G>T
XR_002959364.1:n.2302G>T
NM_001137550.2:c.1459+3717G>T MANE Select	NP_001131022.1:n.1459+3717G>T
NM_001137552.2:c.2209G>T	NP_001131024.1:p.Asp737Tyr
NM_001137553.2:c.2041G>T	NP_001131025.1:p.Asp681Tyr
NM_004735.4:c.2137G>T	NP_004726.2:p.Asp713Tyr
NM_001137551.2:c.721+3717G>T	NP_001131023.1:n.721+3717G>T